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Dld Gene Detail
Summary
  • Symbol
    Dld
  • Name
    dihydrolipoamide dehydrogenase
  • Synonyms
    branched chain alpha-keto acid dehydrogenase complex subunit E3, dihydrolipoyl dehydrogenase
  • Feature Type
    protein coding gene
  • IDs
    MGI:107450
    NCBI Gene: 13382
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr12:31381561-31401470 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 12, 13.43 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    680 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_107450
 protein coding gene Chr12:31381276-31401470 (-)
129S1/SvImJ MGP_129S1SvImJ_G0019659
 protein coding gene Chr12:29266863-29287659 (-)
A/J MGP_AJ_G0019626
 protein coding gene Chr12:28448681-28468506 (-)
AKR/J MGP_AKRJ_G0019597
 protein coding gene Chr12:29360921-29381633 (-)
BALB/cJ MGP_BALBcJ_G0019603
 protein coding gene Chr12:28673550-28693484 (-)
C3H/HeJ MGP_C3HHeJ_G0019407
 protein coding gene Chr12:29220421-29241782 (-)
C57BL/6NJ MGP_C57BL6NJ_G0020050
 protein coding gene Chr12:30172260-30194259 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0017675
 protein coding gene Chr12:27744156-27763543 (-)
CAST/EiJ MGP_CASTEiJ_G0018962
 protein coding gene Chr12:24220011-24240652 (-)
CBA/J MGP_CBAJ_G0019378
 protein coding gene Chr12:31140485-31168037 (-)
DBA/2J MGP_DBA2J_G0019492
 protein coding gene Chr12:28280204-28300051 (-)
FVB/NJ MGP_FVBNJ_G0019483
 protein coding gene Chr12:28074625-28094216 (-)
LP/J MGP_LPJ_G0019562
 protein coding gene Chr12:29371088-29393271 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0019518
 protein coding gene Chr12:30799852-30821005 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0020090
 protein coding gene Chr12:28874309-28895655 (-)
PWK/PhJ MGP_PWKPhJ_G0018729
 protein coding gene Chr12:23006592-23025575 (-)
SPRET/EiJ MGP_SPRETEiJ_G0018517
 protein coding gene Chr12:23478070-23498805 (-)
WSB/EiJ MGP_WSBEiJ_G0019012
 protein coding gene Chr12:29116048-29135597 (-)



Homology
more
  • Human Ortholog
    DLD, dihydrolipoamide dehydrogenase
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    DLD, dihydrolipoamide dehydrogenase
  • Synonyms
    DLDD, DLDH, E3, GCSL, LAD, OGDC-E3, PHE3
  • Links
    NCBI Gene ID: 1738
    neXtProt AC: NX_P09622
    UniProt: P09622

  • Chr Location
    7q31.1; chr7:107891107-107931730 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human DLD associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    5 phenotypes from 1 allele in 1 genetic background
    10 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Embryos homozygous for a targeted null mutation exhibit a developmental delay at 7.5 days postcoitum and are resorbed by 9.5 days postcoitum.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    53
  • GO References
    18
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    964
  • Tissues
    139
  • cDNA Data
    18
  • Literature Summary
    9
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 13382 NCBI Gene Model | MGI Sequence Detail 19910 C57BL/6J ±  kb
    transcript NM_007861 RefSeq | MGI Sequence Detail 2291 ZRU/MplStud  
    polypeptide O08749 UniProt | EBI | MGI Sequence Detail 509 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      2 Sequences
    • Protein Ontology
      PR:000006506 dihydrolipoyl dehydrogenase, mitochondrial
      (term hierarchy)
    • EC
      1.8.1.4
    • InterPro Domains
      IPR050151 Class-I pyridine nucleotide-disulfide oxidoreductase
      IPR006258 Dihydrolipoamide dehydrogenase
      IPR016156 FAD/NAD-linked reductase, dimerisation domain superfamily
      IPR023753 FAD/NAD(P)-binding domain
      IPR036188 FAD/NAD(P)-binding domain superfamily
      IPR001100 Pyridine nucleotide-disulphide oxidoreductase, class I
      IPR012999 Pyridine nucleotide-disulphide oxidoreductase, class I, active site
      IPR004099 Pyridine nucleotide-disulphide oxidoreductase, dimerisation domain
    • GlyGen
      O08749 2 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 26
      Genomic 3
      cDNA 20
      Primer pair 2
      Other 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-35921, MGI:2144786, MGI:2144881
    References
    more
    • Summaries
      All 58
      Developmental Gene Expression 9
      Gene Ontology 18
      Phenotypes 10
    • Earliest
      J:34474 Lyu MS, et al., Genetic mapping of the human and mouse phospholipase C genes. Mamm Genome. 1996 Jul;7(7):501-4
    • Latest
      J:346910 Ayyangar U, et al., Metabolic rewiring of macrophages by epidermal-derived lactate promotes sterile inflammation in the murine skin. EMBO J. 2024 Apr;43(7):1113-1134
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory